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Publications by BM Brigitte

PW02-020 - Colitis Revealing Mevalonate Kinase Deficiency

Pediatric Rheumatology

English

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Mevalonate Kinase Deficiency: Current Perspectives

The Application of Clinical Genetics

English

PW03-021 - HSCT in Mevalonate Kinase Deficiency

Pediatric Rheumatology

English

Identification of an Active Site Alanine in Mevalonate Kinase Through Characterization of a Novel Mutation in Mevalonate Kinase Deficiency

Journal of Biological Chemistry

Molecular Biology

English

Multi-Omics Analyses unveilSTAT1as a Potential Modifier Gene in Mevalonate Kinase Deficiency

Annals of the Rheumatic Diseases

Molecular Biology

English

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency

Frontiers in Immunology

English

Natural Isoprenoids Are Able to Reduce Inflammation in a Mouse Model of Mevalonate Kinase Deficiency

Pediatric Research

English

Unprenylated RhoA Contributes to IL-1β Hypersecretion in Mevalonate Kinase Deficiency Model Through Stimulation of Rac1 Activity

Journal of Biological Chemistry

Molecular Biology

English

A 6-Year-Old Girl Diagnosed With Mevalonate Kinase Deficiency Who Had Hydrops Fetalis and Neonatal-Onset Cholestasis

Japanese Journal of Clinical Immunology

English

Regulatory Adaptation of Isoprenoid Biosynthesis and the LDL Receptor Pathway in Fibroblasts From Patients With Mevalonate Kinase Deficiency

Pediatric Research

English